Blog

It’s been a long, messy process, but I’ve finally learned to read some of my own cues. When something is bothering me, for instance, I tend to consume food and drink straight from the container. The quantities aren’t excessive, but it’s definitely not normal.

So when, in December of 2013, I found myself leaning against the kitchen sink and staring at a blank wall, a bag of chip crumbs in one hand and a nearly-empty bottle of pinot noir from the previous week in the other, I was surprised.

What was there to be upset about? We had just gotten Collin’s diagnosis. The one we had been pursuing for almost five years. Hooray. Right?

Then why had I taken the phone call from the geneticist in the closet? And why hadn’t I shared the news with my visiting family? And why did I keep hugging Collin until he squirmed?

It wasn’t a particularly tragic diagnosis: not progressive, not life threatening in the direct sense. I knew parents facing infinitely worse. In fact, the diagnosis didn’t tell us a single thing we didn’t already know about Collin other than which of his genes has the quirk. With fewer than 10 children with the same syndrome in all of the published literature at that time, there wasn’t even a clear picture yet of what the condition entailed.

What the diagnosis did do was give us a name. Wiedemann-Steiner Syndrome.

And what I realized was that I didn’t want to name my son anything other than Collin.

* * *

I had become very used to Collin’s mysterious nature by that time. We knew virtually nothing about the origin of his various disabilities, and I was okay with that. So having these tethered names for him to take as his own was more unsettling than relieving. Who was this Wiedemann? This Steiner? What did they know of my miraculous son, who defies classification?

They felt like intruders in our household, those names. What would they do, now that they wouldn’t be leaving? Toy with our expectations? Tease us about our hopes? Plant some small, dark dread?

Once I had the chance to think through my reaction to the news, I realized that there were two main reasons I was resisting the naming of “it”:

First, I had latched onto the open-endedness of Collin’s situation as a reason for hope. Without a name, there was no concrete “it”. With no other cases to look at, no one besides Collin himself could show us his potential. It kept me from dreading the future, because I could say honestly that I had no idea what it might bring.

And second, I had come to take comfort in our isolation. It was my normal. What would it mean to be part of a group of people, some with older children who might show us a shadow of Collin’s future? Or, maybe worse, with children Collin’s age or younger with significantly milder symptoms?

On the phone, the geneticist had called the diagnosis a breakthrough. But as I stood there alone in the kitchen while Collin laid waiting for me contentedly in his bedroom, I had to wonder: A breakthrough to what?

* * *

Since the beginning of Collin’s life, my husband and I have had a credo we repeat to each other whenever we face an unwelcome revelation: Collin is the same as he was yesterday. Which, translated, means: Nothing has really changed; now we just know more. That night in the kitchen, I repeated it to myself.

And – eventually – I realized that it was true. Even though we had named his genetic anomaly, nothing had changed about Collin. I didn’t have to fear what other Wiedemann-Steiner kids might show me about my own child. Even within this very specific group, only Collin could show me what would unfold for him.

Even though I have yet to meet any other parents of children with Wiedemann-Steiner Syndrome, the diagnosis also makes me part of a community. In the early days, I used to feel jealous of the parents of children with Down Syndrome because of the amazing, family-like group that welcomed young parents, offering support and guidance. But now I’m a member of the Rare Disease community: a group of parents alike in their rarity. Who understand what it’s like to know more about your child’s condition than his or her doctors. Who find companionship among others living nearly impossible odds every day.

I have come to see Collin’s diagnosis – just like his therapies and health care professionals and specialized equipment – as a resource. A tool. It’s a handle I can grab onto when someone asks. My son has a rare genetic disorder called Wiedemann-Steiner Syndrome, I can say. His name is Collin.